Sphingomyelin phosphodiesterase 1
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Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Sphingomyelin phosphodiesterase 1 (SMPD1), also known as acid sphingomyelinase (ASM), is an enzyme that in humans is encoded by the SMPD1 gene.
Sphingomyelin phosphodiesterase 1 belongs to the sphingomyelin phosphodiesterase family.[1] Defects in SMPD1 gene cause Niemann-Pick disease, SMPD1-associated. Ziv Gan-Or et al. reported a p.L302P mutation in the SMPD1 gene as a risk factor for Parkinson disease.[2]
References
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Ziv Gan-Or, Laurie J. Ozelius, Anat Bar-Shira, Rachel Saunders-Pullman, Anat Mirelman, Ruth Kornreich, Mali Gana-Weisz, Deborah Raymond, Liron Rozenkrantz, Andres Deik, Tanya Gurevich, Susan J. Gross, Nicole Schreiber-Agus, Nir Giladi, Susan B. Bressman, and Avi Orr-Urtreger Neurology April 23, 2013 80:1606-1610
Further reading
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External links
- GeneReviews/NCBI/NIH/UW entry on Acid Sphingomyelinase Deficiency Includes: Niemann-Pick Disease Type A, Niemann-Pick Disease Type B
- OMIM entries on Acid Sphingomyelinase Deficiency
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